PAPPALARDO, XENA GIADA

PAPPALARDO, XENA GIADA  

SCIENZE BIOMEDICHE E BIOTECNOLOGICHE  

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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy 1-gen-2020 Pavone, P.; Ruggieri, M.; Marino, S. D.; Corsello, G.; Pappalardo, X.; Polizzi, A.; Parano, E.; Romano, C.; Marino, S.; Pratico, A. D.; Falsaperla, R.
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures 1-gen-2020 Falsaperla, R.; Pappalardo, X. G.; Romano, C.; Marino, S. D.; Corsello, G.; Ruggieri, M.; Parano, E.; Pavone, P.
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2 1-gen-2020 Pavone, P.; Pappalardo, X. G.; Incorpora, G.; Falsaperla, R.; Marino, S. D.; Corsello, G.; Parano, E.; Ruggieri, M.
A novel GABRB3 variant in Dravet syndrome: Case report and literature review 1-gen-2020 Pavone, P.; Pappalardo, X. G.; Marino, S. D.; Sciuto, L.; Corsello, G.; Ruggieri, M.; Parano, E.; Piccione, M.; Falsaperla, R.
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? 1-gen-2019 Pavone, P; Corsello, G; Cho, Sy; Pappalardo, Xg; Ruggieri, M; Marino, Sd; Jin, Dk; Marino, S; Falsaperla, R
VDAC Genes Expression and Regulation in Mammals 1-gen-2021 Zinghirino, F.; Pappalardo, X. G.; Messina, A.; Nicosia, G.; De Pinto, V.; Guarino, F.